Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes
Jeffrey C. Staples, Evan K. Maxwell, Nehal Gosalia, Claudia G. Gonzaga-Jauregui, Christopher Snyder, Alicia C. Hawes, John Penn, Ricardo H. Ulloa, Xiaodong Bai, Alexander E. Lopez, Cristopher V. Van Hout, Colm T. O’Dushlaine, Tanya M. Teslovich, Shane McCarthy, Suganthi Balasubramanian, , Jeffrey G. Reid
The paper analyzes cryptic relatedness in a large exome cohort, identifies numerous close relationships, reconstructs pedigrees, and demonstrates their utility in improving mutation phasing and identifying de novo mutations.
The American Journal of Human Genetics · May 1, 2018Peer-reviewedGenomics